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Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).

Conceição Bettencourt et al.

Cerebellum (London, England), 11(4), 1045-1050 (2012-03-17)

Machado-Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)(n) expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of

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